UAB Callahan Eye Hospital offers new gene therapy treatment for inherited retinal disease

The University of Alabama at Birmingham Callahan Eye Hospital has been named one of the newest sites for Spark Therapeutics’ Luxturna, the first Food and Drug Administration-approved gene therapy treatment for a genetic disease.

Dr. Jason Crosson (UAB)

It is a prescription gene therapy for patients with an inherited retinal disease due to mutations in both copies of the RPE65 gene, which can only be confirmed by genetic testing. Patients must have viable retinal cells as determined by treating physicians.

Leber congenital amaurosis (ACL) is a retinal degenerative disorder and a major cause of genetic blindness in children. ACL patients begin to lose their sight within the first five years of life, and the condition gradually worsens as they age. Most patients are considered legally blind due to the profound vision loss it causes.

One subtype is caused by inherited mutations in both copies of the RPE65 gene. When patients have mutations in both copies of their RPE65 gene, the normal visual cycle cannot take place and retinal cells die over time.

Luxturna uses a non-pathogenic virus to deliver a normal copy of the RPE65 gene to retinal cells, allowing them to make proteins that have the potential to get the visual cycle working properly again.

Dr. Jason Crosson and Dr. Richard Feist Jr. of Retina Consultants of Alabama will treat patients with RPE65 ACL, also known as ACL 2, at UAB Callahan Eye Hospital.

“We are thrilled to offer patients with this debilitating condition the ability to see more clearly in low-light environments for the first time in their lives,” said Dr. Dawn DeCarlo, Director of the UAB Center for Rehabilitation of low vision in the Marnix E Heersink School of Medicine. “Patients in our area who were previously identified as good candidates for Luxturna had to travel to other states to receive treatment. It is exciting that we will now not only be able to offer Alabama patients treatment right here at UAB Callahan Eye Hospital, but we will also be a destination treatment center for patients from across the Southeast. East.

Dr. Richard Feist Jr. (UAB)

UAB is now one of 14 treatment sites in the country and one of the few sites in the southeast.

“Our location in Birmingham is an asset because of our reputation as a national sight center and the accessibility of our city for people living in the South East,” said Brian Samuels, acting chairman of the department. of Ophthalmology and Visual Sciences from the UAB. “I am extremely proud of Drs. Paul Gamlin, Douglas Witherspoon, Dawn DeCarlo, Jason Crosson, and Richard Feist Jr., who helped establish UAB as a designated treatment center.

“We have already been informed that there are patients from Alabama and the Southeast who wish to receive treatment here,” Crosson said. “We look forward to meeting our new patients soon and scheduling them for treatment.”

This story originally appeared on the UAB News website.

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